Incidental Mutation 'R5914:Arhgef2'
| ID |
461176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef2
|
| Ensembl Gene |
ENSMUSG00000028059 |
| Gene Name |
Rho/Rac guanine nucleotide exchange factor 2 |
| Synonyms |
Lfc, Lbcl1, LFP40, P40, GEFH1, GEF-H1 |
| MMRRC Submission |
044111-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.664)
|
| Stock # |
R5914 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
88513273-88555359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88543176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 396
(Y396H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029694]
[ENSMUST00000107510]
[ENSMUST00000170653]
[ENSMUST00000175745]
[ENSMUST00000175779]
[ENSMUST00000175903]
[ENSMUST00000175911]
[ENSMUST00000176500]
[ENSMUST00000176804]
[ENSMUST00000176316]
[ENSMUST00000177023]
[ENSMUST00000176879]
[ENSMUST00000176307]
[ENSMUST00000176243]
[ENSMUST00000176539]
[ENSMUST00000177303]
[ENSMUST00000177498]
|
| AlphaFold |
Q60875 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029694
AA Change: Y413H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029694
Gene: ENSMUSG00000028059
AA Change: Y413H
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
40 |
86 |
4.22e-9 |
SMART |
|
low complexity region
|
90 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
146 |
N/A |
INTRINSIC |
|
RhoGEF
|
240 |
432 |
1.86e-58 |
SMART |
|
PH
|
474 |
574 |
9.56e-11 |
SMART |
|
coiled coil region
|
588 |
619 |
N/A |
INTRINSIC |
|
low complexity region
|
812 |
827 |
N/A |
INTRINSIC |
|
coiled coil region
|
829 |
866 |
N/A |
INTRINSIC |
|
low complexity region
|
872 |
888 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107510
AA Change: Y386H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103134
Gene: ENSMUSG00000028059
AA Change: Y386H
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
13 |
59 |
4.22e-9 |
SMART |
|
low complexity region
|
63 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
119 |
N/A |
INTRINSIC |
|
RhoGEF
|
213 |
405 |
1.86e-58 |
SMART |
|
PH
|
447 |
547 |
9.56e-11 |
SMART |
|
coiled coil region
|
561 |
592 |
N/A |
INTRINSIC |
|
low complexity region
|
785 |
800 |
N/A |
INTRINSIC |
|
coiled coil region
|
802 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
861 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170653
AA Change: Y384H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127843
Gene: ENSMUSG00000028059
AA Change: Y384H
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
13 |
59 |
4.22e-9 |
SMART |
|
low complexity region
|
63 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
117 |
N/A |
INTRINSIC |
|
RhoGEF
|
211 |
403 |
1.86e-58 |
SMART |
|
PH
|
445 |
545 |
9.56e-11 |
SMART |
|
coiled coil region
|
559 |
590 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
798 |
N/A |
INTRINSIC |
|
coiled coil region
|
800 |
837 |
N/A |
INTRINSIC |
|
low complexity region
|
843 |
859 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175745
|
| SMART Domains |
Protein: ENSMUSP00000135044
Gene: ENSMUSG00000028059
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
13 |
59 |
4.22e-9 |
SMART |
|
low complexity region
|
63 |
68 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175779
AA Change: Y398H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135177
Gene: ENSMUSG00000028059
AA Change: Y398H
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
25 |
71 |
4.22e-9 |
SMART |
|
low complexity region
|
75 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
|
RhoGEF
|
225 |
417 |
1.86e-58 |
SMART |
|
PH
|
459 |
559 |
9.56e-11 |
SMART |
|
coiled coil region
|
573 |
604 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
812 |
N/A |
INTRINSIC |
|
coiled coil region
|
814 |
851 |
N/A |
INTRINSIC |
|
low complexity region
|
857 |
873 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175903
AA Change: Y396H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135168
Gene: ENSMUSG00000028059
AA Change: Y396H
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
25 |
71 |
4.22e-9 |
SMART |
|
low complexity region
|
75 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
|
RhoGEF
|
223 |
415 |
1.86e-58 |
SMART |
|
PH
|
457 |
557 |
9.56e-11 |
SMART |
|
coiled coil region
|
571 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
795 |
810 |
N/A |
INTRINSIC |
|
coiled coil region
|
812 |
849 |
N/A |
INTRINSIC |
|
low complexity region
|
855 |
871 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175911
AA Change: Y405H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135428
Gene: ENSMUSG00000028059
AA Change: Y405H
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
32 |
78 |
4.22e-9 |
SMART |
|
low complexity region
|
82 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
138 |
N/A |
INTRINSIC |
|
RhoGEF
|
232 |
424 |
1.86e-58 |
SMART |
|
PH
|
466 |
566 |
9.56e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176500
AA Change: Y398H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134834
Gene: ENSMUSG00000028059
AA Change: Y398H
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
25 |
71 |
4.22e-9 |
SMART |
|
low complexity region
|
75 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
|
RhoGEF
|
225 |
417 |
1.86e-58 |
SMART |
|
PH
|
459 |
559 |
9.56e-11 |
SMART |
|
coiled coil region
|
573 |
604 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
812 |
N/A |
INTRINSIC |
|
coiled coil region
|
814 |
851 |
N/A |
INTRINSIC |
|
low complexity region
|
857 |
873 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176804
AA Change: Y411H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135397
Gene: ENSMUSG00000028059
AA Change: Y411H
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
40 |
86 |
4.22e-9 |
SMART |
|
low complexity region
|
90 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
146 |
N/A |
INTRINSIC |
|
RhoGEF
|
238 |
430 |
1.86e-58 |
SMART |
|
PH
|
472 |
572 |
9.56e-11 |
SMART |
|
coiled coil region
|
586 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
810 |
825 |
N/A |
INTRINSIC |
|
coiled coil region
|
827 |
864 |
N/A |
INTRINSIC |
|
low complexity region
|
870 |
886 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176301
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176528
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176401
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176079
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176316
|
| SMART Domains |
Protein: ENSMUSP00000135808
Gene: ENSMUSG00000028059
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
32 |
78 |
4.22e-9 |
SMART |
|
low complexity region
|
82 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177023
|
| SMART Domains |
Protein: ENSMUSP00000134859
Gene: ENSMUSG00000028059
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
25 |
71 |
4.22e-9 |
SMART |
|
low complexity region
|
75 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
|
Blast:RhoGEF
|
182 |
208 |
5e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176879
|
| SMART Domains |
Protein: ENSMUSP00000134766
Gene: ENSMUSG00000028059
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
32 |
78 |
4.22e-9 |
SMART |
|
low complexity region
|
82 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176307
|
| SMART Domains |
Protein: ENSMUSP00000134843
Gene: ENSMUSG00000028059
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
13 |
59 |
4.22e-9 |
SMART |
|
low complexity region
|
63 |
68 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176243
|
| SMART Domains |
Protein: ENSMUSP00000135771
Gene: ENSMUSG00000028059
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
13 |
59 |
4.22e-9 |
SMART |
|
low complexity region
|
63 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
117 |
N/A |
INTRINSIC |
|
Blast:RhoGEF
|
170 |
203 |
1e-14 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176539
|
| SMART Domains |
Protein: ENSMUSP00000135612
Gene: ENSMUSG00000028059
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
25 |
71 |
4.22e-9 |
SMART |
|
low complexity region
|
75 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
|
Blast:RhoGEF
|
184 |
253 |
2e-28 |
BLAST |
|
PDB:4D0N|B
|
196 |
255 |
1e-17 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177303
AA Change: Y384H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135131
Gene: ENSMUSG00000028059
AA Change: Y384H
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
13 |
59 |
4.22e-9 |
SMART |
|
low complexity region
|
63 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
119 |
N/A |
INTRINSIC |
|
RhoGEF
|
211 |
403 |
1.86e-58 |
SMART |
|
PH
|
445 |
545 |
9.56e-11 |
SMART |
|
coiled coil region
|
559 |
590 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
798 |
N/A |
INTRINSIC |
|
coiled coil region
|
800 |
837 |
N/A |
INTRINSIC |
|
low complexity region
|
843 |
859 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177418
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177498
AA Change: Y396H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134840
Gene: ENSMUSG00000028059
AA Change: Y396H
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
25 |
71 |
4.22e-9 |
SMART |
|
low complexity region
|
75 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
|
RhoGEF
|
223 |
415 |
1.86e-58 |
SMART |
|
PH
|
457 |
557 |
9.56e-11 |
SMART |
|
coiled coil region
|
571 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
795 |
810 |
N/A |
INTRINSIC |
|
coiled coil region
|
812 |
849 |
N/A |
INTRINSIC |
|
low complexity region
|
855 |
871 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177091
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177120
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
95% (87/92) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit impaired response to viral infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
G |
A |
15: 74,410,219 (GRCm39) |
R286H |
possibly damaging |
Het |
| Ank3 |
A |
T |
10: 69,828,774 (GRCm39) |
|
probably benign |
Het |
| Arhgap24 |
G |
A |
5: 102,700,025 (GRCm39) |
|
probably null |
Het |
| Asap3 |
G |
T |
4: 135,968,720 (GRCm39) |
G722C |
probably benign |
Het |
| Birc2 |
A |
C |
9: 7,857,343 (GRCm39) |
*377E |
probably null |
Het |
| Cdc123 |
G |
T |
2: 5,803,174 (GRCm39) |
Q282K |
possibly damaging |
Het |
| Cdkl4 |
C |
T |
17: 80,855,120 (GRCm39) |
|
probably null |
Het |
| Cep97 |
T |
C |
16: 55,725,820 (GRCm39) |
N689S |
probably benign |
Het |
| Cfap97 |
T |
G |
8: 46,634,895 (GRCm39) |
S407A |
probably damaging |
Het |
| Cfh |
A |
T |
1: 140,063,967 (GRCm39) |
N436K |
probably benign |
Het |
| Chpf2 |
A |
T |
5: 24,797,421 (GRCm39) |
|
probably benign |
Het |
| Cnnm2 |
A |
G |
19: 46,751,616 (GRCm39) |
T469A |
probably benign |
Het |
| Col6a3 |
T |
A |
1: 90,703,922 (GRCm39) |
I2275F |
unknown |
Het |
| Ctdspl2 |
A |
T |
2: 121,809,414 (GRCm39) |
N122Y |
probably damaging |
Het |
| Dcaf6 |
A |
T |
1: 165,178,724 (GRCm39) |
C602S |
probably benign |
Het |
| Dda1 |
T |
A |
8: 71,927,294 (GRCm39) |
|
probably benign |
Het |
| Dixdc1 |
T |
C |
9: 50,609,888 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Emilin3 |
T |
A |
2: 160,750,990 (GRCm39) |
N253I |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,002,847 (GRCm39) |
|
probably null |
Het |
| Fam204a |
A |
T |
19: 60,209,525 (GRCm39) |
Y68* |
probably null |
Het |
| Fbln5 |
T |
G |
12: 101,727,002 (GRCm39) |
D329A |
possibly damaging |
Het |
| Fkbp15 |
T |
A |
4: 62,246,047 (GRCm39) |
|
probably null |
Het |
| Fnbp4 |
C |
G |
2: 90,605,137 (GRCm39) |
|
probably benign |
Het |
| Foxn2 |
C |
A |
17: 88,770,138 (GRCm39) |
|
probably null |
Het |
| Frem1 |
T |
C |
4: 82,920,012 (GRCm39) |
D448G |
probably damaging |
Het |
| Fzd9 |
T |
C |
5: 135,278,199 (GRCm39) |
Y562C |
probably benign |
Het |
| Gcn1 |
A |
G |
5: 115,748,194 (GRCm39) |
|
silent |
Het |
| Gm6003 |
A |
G |
7: 32,864,691 (GRCm39) |
|
noncoding transcript |
Het |
| Gnl3 |
C |
A |
14: 30,738,853 (GRCm39) |
E65D |
possibly damaging |
Het |
| Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
| Hk2 |
C |
T |
6: 82,713,615 (GRCm39) |
R461K |
probably benign |
Het |
| Ice1 |
A |
G |
13: 70,754,496 (GRCm39) |
F530S |
possibly damaging |
Het |
| Ing3 |
T |
A |
6: 21,968,904 (GRCm39) |
S129T |
probably benign |
Het |
| Ino80 |
G |
A |
2: 119,288,697 (GRCm39) |
S3L |
probably damaging |
Het |
| Ints2 |
T |
A |
11: 86,113,000 (GRCm39) |
Q839H |
probably benign |
Het |
| Kcnrg |
T |
C |
14: 61,849,280 (GRCm39) |
M247T |
probably benign |
Het |
| Kpna6 |
T |
C |
4: 129,566,485 (GRCm39) |
|
probably benign |
Het |
| Krtap28-13 |
T |
A |
1: 83,039,044 (GRCm39) |
|
probably benign |
Het |
| Lgr4 |
T |
A |
2: 109,748,617 (GRCm39) |
V51E |
possibly damaging |
Het |
| Map3k5 |
A |
C |
10: 19,980,001 (GRCm39) |
E836D |
probably benign |
Het |
| Mapk11 |
T |
C |
15: 89,030,038 (GRCm39) |
I193V |
probably benign |
Het |
| Marchf10 |
A |
T |
11: 105,276,308 (GRCm39) |
V660E |
probably damaging |
Het |
| Matn4 |
T |
C |
2: 164,235,144 (GRCm39) |
E435G |
probably damaging |
Het |
| Mre11a |
G |
T |
9: 14,723,232 (GRCm39) |
R402M |
probably damaging |
Het |
| Msr1 |
C |
T |
8: 40,034,868 (GRCm39) |
G428R |
probably damaging |
Het |
| Ndufv3 |
C |
T |
17: 31,750,206 (GRCm39) |
R99* |
probably null |
Het |
| Nkx6-1 |
C |
T |
5: 101,811,847 (GRCm39) |
S85N |
unknown |
Het |
| Nop2 |
A |
T |
6: 125,111,691 (GRCm39) |
E141D |
probably benign |
Het |
| Or5b3 |
A |
G |
19: 13,388,326 (GRCm39) |
H131R |
probably benign |
Het |
| Or8b1 |
G |
C |
9: 38,399,657 (GRCm39) |
E111Q |
probably damaging |
Het |
| Paox |
T |
C |
7: 139,709,101 (GRCm39) |
S205P |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,466,768 (GRCm39) |
V995A |
probably benign |
Het |
| Pdcd1 |
T |
A |
1: 93,968,550 (GRCm39) |
K161N |
probably benign |
Het |
| Pfkfb2 |
C |
A |
1: 130,627,832 (GRCm39) |
V372L |
probably damaging |
Het |
| Phldb1 |
G |
A |
9: 44,622,948 (GRCm39) |
T19I |
probably damaging |
Het |
| Pik3c2g |
G |
T |
6: 139,599,477 (GRCm39) |
V198L |
probably benign |
Het |
| Pnpla8 |
T |
A |
12: 44,342,753 (GRCm39) |
L41* |
probably null |
Het |
| Postn |
C |
T |
3: 54,281,221 (GRCm39) |
Q449* |
probably null |
Het |
| Ppp1r3a |
C |
T |
6: 14,718,988 (GRCm39) |
S642N |
probably benign |
Het |
| Ptpn23 |
G |
A |
9: 110,214,511 (GRCm39) |
|
probably benign |
Het |
| Ptprj |
T |
C |
2: 90,283,684 (GRCm39) |
N923S |
possibly damaging |
Het |
| Rai1 |
T |
C |
11: 60,078,630 (GRCm39) |
V898A |
probably benign |
Het |
| Rasgef1a |
A |
T |
6: 118,057,515 (GRCm39) |
Y72F |
possibly damaging |
Het |
| Serpinb7 |
T |
C |
1: 107,379,580 (GRCm39) |
V329A |
probably damaging |
Het |
| Slc24a4 |
T |
A |
12: 102,201,049 (GRCm39) |
I311N |
probably damaging |
Het |
| Slc45a1 |
C |
A |
4: 150,713,997 (GRCm39) |
L749F |
possibly damaging |
Het |
| Spon1 |
G |
A |
7: 113,630,056 (GRCm39) |
D428N |
probably damaging |
Het |
| Tcf7l2 |
G |
A |
19: 55,886,992 (GRCm39) |
E2K |
probably benign |
Het |
| Thoc5 |
A |
G |
11: 4,870,416 (GRCm39) |
M472V |
possibly damaging |
Het |
| Tm6sf2 |
T |
C |
8: 70,528,213 (GRCm39) |
Y121H |
probably damaging |
Het |
| Tmc4 |
T |
A |
7: 3,675,008 (GRCm39) |
D221V |
probably benign |
Het |
| Trim30b |
A |
T |
7: 104,006,572 (GRCm39) |
S95T |
probably damaging |
Het |
| Trip12 |
T |
C |
1: 84,741,179 (GRCm39) |
E571G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,781,656 (GRCm39) |
|
probably null |
Het |
| Ubp1 |
A |
T |
9: 113,785,807 (GRCm39) |
R161W |
probably benign |
Het |
| Usp21 |
G |
A |
1: 171,109,745 (GRCm39) |
|
probably benign |
Het |
| Vmn1r61 |
T |
A |
7: 5,613,529 (GRCm39) |
R262W |
probably damaging |
Het |
| Vmn2r67 |
A |
T |
7: 84,801,044 (GRCm39) |
D297E |
probably damaging |
Het |
| Vwa5a |
T |
C |
9: 38,653,038 (GRCm39) |
L784S |
probably benign |
Het |
| Vwc2 |
G |
A |
11: 11,104,244 (GRCm39) |
V259M |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,887,064 (GRCm39) |
I596M |
probably benign |
Het |
| Zgrf1 |
T |
A |
3: 127,354,672 (GRCm39) |
L97H |
probably damaging |
Het |
|
| Other mutations in Arhgef2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01913:Arhgef2
|
APN |
3 |
88,539,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02165:Arhgef2
|
APN |
3 |
88,553,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
monument
|
UTSW |
3 |
88,540,955 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0090:Arhgef2
|
UTSW |
3 |
88,546,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0330:Arhgef2
|
UTSW |
3 |
88,549,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0414:Arhgef2
|
UTSW |
3 |
88,539,575 (GRCm39) |
splice site |
probably benign |
|
|
R0631:Arhgef2
|
UTSW |
3 |
88,541,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1635:Arhgef2
|
UTSW |
3 |
88,546,628 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1688:Arhgef2
|
UTSW |
3 |
88,547,607 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1751:Arhgef2
|
UTSW |
3 |
88,551,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1767:Arhgef2
|
UTSW |
3 |
88,551,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Arhgef2
|
UTSW |
3 |
88,546,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1853:Arhgef2
|
UTSW |
3 |
88,540,222 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1934:Arhgef2
|
UTSW |
3 |
88,537,098 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2155:Arhgef2
|
UTSW |
3 |
88,543,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2206:Arhgef2
|
UTSW |
3 |
88,537,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2360:Arhgef2
|
UTSW |
3 |
88,541,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3916:Arhgef2
|
UTSW |
3 |
88,540,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4090:Arhgef2
|
UTSW |
3 |
88,551,185 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4732:Arhgef2
|
UTSW |
3 |
88,539,247 (GRCm39) |
nonsense |
probably null |
|
|
R4733:Arhgef2
|
UTSW |
3 |
88,539,247 (GRCm39) |
nonsense |
probably null |
|
|
R4837:Arhgef2
|
UTSW |
3 |
88,540,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4952:Arhgef2
|
UTSW |
3 |
88,549,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5152:Arhgef2
|
UTSW |
3 |
88,536,875 (GRCm39) |
splice site |
probably null |
|
|
R5194:Arhgef2
|
UTSW |
3 |
88,542,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5250:Arhgef2
|
UTSW |
3 |
88,540,955 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5334:Arhgef2
|
UTSW |
3 |
88,553,636 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5514:Arhgef2
|
UTSW |
3 |
88,550,304 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5560:Arhgef2
|
UTSW |
3 |
88,541,744 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5595:Arhgef2
|
UTSW |
3 |
88,550,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5879:Arhgef2
|
UTSW |
3 |
88,550,924 (GRCm39) |
splice site |
probably null |
|
|
R5910:Arhgef2
|
UTSW |
3 |
88,542,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5918:Arhgef2
|
UTSW |
3 |
88,543,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6181:Arhgef2
|
UTSW |
3 |
88,542,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6489:Arhgef2
|
UTSW |
3 |
88,550,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7167:Arhgef2
|
UTSW |
3 |
88,551,179 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7289:Arhgef2
|
UTSW |
3 |
88,543,192 (GRCm39) |
missense |
probably benign |
|
|
R7318:Arhgef2
|
UTSW |
3 |
88,539,610 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7353:Arhgef2
|
UTSW |
3 |
88,542,993 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7402:Arhgef2
|
UTSW |
3 |
88,540,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7441:Arhgef2
|
UTSW |
3 |
88,551,262 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7899:Arhgef2
|
UTSW |
3 |
88,528,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7934:Arhgef2
|
UTSW |
3 |
88,537,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8002:Arhgef2
|
UTSW |
3 |
88,554,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8254:Arhgef2
|
UTSW |
3 |
88,549,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8297:Arhgef2
|
UTSW |
3 |
88,546,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8314:Arhgef2
|
UTSW |
3 |
88,528,600 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8350:Arhgef2
|
UTSW |
3 |
88,553,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8450:Arhgef2
|
UTSW |
3 |
88,553,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8755:Arhgef2
|
UTSW |
3 |
88,536,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9632:Arhgef2
|
UTSW |
3 |
88,528,576 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9710:Arhgef2
|
UTSW |
3 |
88,528,576 (GRCm39) |
missense |
probably benign |
0.43 |
|
V1662:Arhgef2
|
UTSW |
3 |
88,540,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATTCTCCTGGTGACTCAG -3'
(R):5'- TCCGTAAAAGTTCATCTCGGCC -3'
Sequencing Primer
(F):5'- TGTGCTCATCAACAGAATCCTG -3'
(R):5'- CGGTTGTAAATCTCCTGC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation